Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 21 | 44285055 | upstream gene variant | G/A | snv | 0.14 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 32549268 | downstream gene variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 19 | 41353431 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 9386473 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 29979963 | downstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 2 | 174764872 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 143277647 | downstream gene variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 2 | 203864430 | upstream gene variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 160629620 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 151072089 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 18 | 62349000 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 97062415 | regulatory region variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 2 | 178780121 | missense variant | C/G | snv | 9.6E-05 | 9.1E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 8 | 80451970 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 16 | 16185006 | missense variant | G/T | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 16 | 16185012 | synonymous variant | G/C;T | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 18 | 23007948 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 5 | 151059427 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 6 | 31548022 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 5 | 151060536 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 1 | 236537507 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 6 | 30926164 | missense variant | G/A | snv | 0.14 | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.200 | 1 | 67354511 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 6 | 137909252 | intergenic variant | G/A | snv | 3.3E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 6 | 30989841 | 3 prime UTR variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 |